Variant report

Variant	nsv4140
Chromosome Location	chr3:179383961-179429704
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:179280406..179283122-chr3:179427442..179429884,2	K562	blood:
2	chr3:179405760..179407669-chr3:179413822..179415850,2	MCF-7	breast:
3	chr3:179369867..179372337-chr3:179397907..179400346,2	MCF-7	breast:
4	chr3:179399772..179403297-chr3:179407703..179410091,3	K562	blood:
5	chr3:179399772..179403297-chr3:179407703..179410091,3	K562	blood:
6	chr3:179369108..179370805-chr3:179422559..179424408,2	MCF-7	breast:
7	chr3:179380173..179383010-chr3:179383276..179385803,2	K562	blood:
8	chr3:179369309..179372253-chr3:179388247..179392368,5	MCF-7	breast:
9	chr3:179380055..179381652-chr3:179404647..179407637,2	K562	blood:
10	chr3:179384877..179386564-chr3:179386761..179389238,2	MCF-7	breast:
11	chr3:179399505..179402257-chr3:179403875..179406189,3	K562	blood:
12	chr3:179391443..179393801-chr3:179394734..179396549,3	MCF-7	breast:
13	chr3:179320977..179323213-chr3:179393036..179394637,2	K562	blood:
14	chr3:179399505..179402257-chr3:179403875..179406189,3	K562	blood:
15	chr3:179372827..179374690-chr3:179405067..179408048,2	K562	blood:
16	chr3:179399505..179402257-chr3:179403875..179406189,2	K562	blood:
17	chr3:179409591..179411693-chr3:179419157..179421200,3	K562	blood:
18	chr3:179368583..179370477-chr3:179391121..179393841,2	MCF-7	breast:
19	chr3:179368925..179372281-chr3:179397125..179401250,3	MCF-7	breast:
20	chr3:179405760..179407669-chr3:179413822..179415850,2	MCF-7	breast:
21	chr3:179372568..179375317-chr3:179384633..179386319,2	MCF-7	breast:
22	chr3:179399505..179402257-chr3:179403875..179406189,2	K562	blood:
23	chr3:179412916..179414518-chr3:179418011..179420570,2	K562	blood:
24	chr3:179384877..179386564-chr3:179386761..179389238,2	MCF-7	breast:
25	chr3:179369821..179372060-chr3:179405523..179407102,2	MCF-7	breast:
26	chr3:179409591..179411693-chr3:179419157..179421200,3	K562	blood:
27	chr3:179412916..179414518-chr3:179418011..179420570,2	K562	blood:
28	chr3:179391169..179394012-chr3:179395352..179397041,2	K562	blood:
29	chr3:179391169..179394012-chr3:179395352..179397041,2	K562	blood:
30	chr3:179391443..179393801-chr3:179394734..179396549,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000058056	chromatin interactions
ENSG00000136522	chromatin interactions
ENSG00000136521	chromatin interactions
ENSG00000136518	chromatin interactions

Extended variants
information (count: 1605 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:1605 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565744448	chr3:179383961-179383962	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs534689505	chr3:179383980-179383981	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs140012351	chr3:179384078-179384079	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs577362780	chr3:179384138-179384139	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs544403611	chr3:179384186-179384187	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs534211887	chr3:179384209-179384210	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs576388090	chr3:179384312-179384313	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs541793889	chr3:179384343-179384344	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs561862985	chr3:179384361-179384362	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs572241351	chr3:179384411-179384412	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs376265176	chr3:179384430-179384431	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs541106234	chr3:179384432-179384433	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs141432740	chr3:179384449-179384450	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs532975213	chr3:179384452-179384453	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs188149270	chr3:179384464-179384465	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs181896317	chr3:179384498-179384499	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs528910346	chr3:179384508-179384509	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs549031633	chr3:179384523-179384524	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs565656802	chr3:179384544-179384545	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs186107576	chr3:179384546-179384547	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs551178433	chr3:179384577-179384578	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs571034165	chr3:179384605-179384606	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs116741126	chr3:179384664-179384665	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs529859517	chr3:179384761-179384762	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs540307094	chr3:179384794-179384795	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs150795566	chr3:179384898-179384899	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs73052567	chr3:179384938-179384939	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs535733294	chr3:179384963-179384964	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs6443664	chr3:179385000-179385001	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs139223653	chr3:179385012-179385013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs34875853	chr3:179385030-179385031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs386398679	chr3:179385031-179385032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541171302	chr3:179385059-179385060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564387134	chr3:179385061-179385062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551842756	chr3:179385115-179385116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576026602	chr3:179385126-179385127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577787498	chr3:179385135-179385136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs149957642	chr3:179385144-179385145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563480253	chr3:179385265-179385266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529231231	chr3:179385272-179385273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549293497	chr3:179385280-179385281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559430160	chr3:179385307-179385308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs528050903	chr3:179385348-179385349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs569545660	chr3:179385363-179385364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs551458631	chr3:179385367-179385368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs55744969	chr3:179385382-179385383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs533589392	chr3:179385432-179385433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550143052	chr3:179385441-179385442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs147181561	chr3:179385465-179385466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs548812048	chr3:179385504-179385505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Anaplastic thyroid cancer	17989125	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Ovarian cancer	18208621	CNVD
Thyroid cancer	17317825	CNVD
Thyroid cancer	17989125	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	21806811	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	19653912	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Prostate cancer	18632612	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Chordoma	21215367	CNVD

Chromatin state (count:1090 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:179372600-179384200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:179372600-179403200	Weak transcription	Primary B cells from cord blood	blood
3	chr3:179372600-179408400	Weak transcription	Fetal Intestine Small	intestine
4	chr3:179372600-179425200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr3:179373200-179384200	Weak transcription	NHLF	lung
6	chr3:179374600-179408000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr3:179374800-179384000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr3:179375000-179389200	Weak transcription	Hela-S3	cervix
9	chr3:179376000-179384200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr3:179376600-179384000	Weak transcription	Fetal Stomach	stomach
11	chr3:179376600-179400800	Weak transcription	Dnd41	blood
12	chr3:179377000-179384000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr3:179377000-179384000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr3:179379200-179385200	Enhancers	Fetal Heart	heart
15	chr3:179380400-179384400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:179380600-179418800	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr3:179381400-179384000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr3:179381600-179384000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr3:179381600-179384200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr3:179381800-179384000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr3:179381800-179384000	Weak transcription	Lung	lung
22	chr3:179381800-179384000	Weak transcription	Pancreas	Pancrea
23	chr3:179382200-179385800	Enhancers	Fetal Muscle Leg	muscle
24	chr3:179382600-179384000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr3:179382800-179384200	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr3:179383200-179384000	Weak transcription	Brain Germinal Matrix	brain
27	chr3:179383200-179384000	Enhancers	HSMMtube	muscle
28	chr3:179383200-179384800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr3:179383400-179384800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr3:179383400-179384800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr3:179383400-179386600	Enhancers	Left Ventricle	heart
32	chr3:179383600-179384000	Weak transcription	HepG2	liver
33	chr3:179383600-179384600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr3:179383600-179385000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr3:179383600-179385000	Enhancers	Brain Substantia Nigra	brain
36	chr3:179383800-179384000	Enhancers	Brain Angular Gyrus	brain
37	chr3:179383800-179384000	Enhancers	Brain Anterior Caudate	brain
38	chr3:179383800-179384000	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr3:179383800-179384400	Enhancers	H9 Cell Line	embryonic stem cell
40	chr3:179383800-179384400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr3:179383800-179384600	Enhancers	HUVEC	blood vessel
42	chr3:179383800-179384600	Enhancers	Osteobl	bone
43	chr3:179383800-179384800	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr3:179383800-179384800	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr3:179383800-179384800	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr3:179383800-179384800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr3:179383800-179384800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr3:179383800-179384800	Enhancers	Muscle Satellite Cultured Cells	--
49	chr3:179383800-179384800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr3:179383800-179384800	Enhancers	Esophagus	oesophagus

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